Canonical Allele Identifier: CA404256031

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1164774787
• MyVariant Identifiers: chr19:g.12776191T>A (hg19) ; chr19:g.12665377T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665377T>A , CM000681.2:g.12665377T>A	GRCh38
NC_000019.9:g.12776191T>A , CM000681.1:g.12776191T>A	GRCh37
NC_000019.8:g.12637191T>A	NCBI36
NG_008318.1:g.6401A>T
NG_015814.1:g.3574T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.411A>T MANE Select	ENSP00000395473.2:p.Glu137Asp
ENST00000221363.8:c.411A>T	ENSP00000221363.4:p.Glu137Asp
ENST00000456935.6:c.411A>T	ENSP00000395473.2:p.Glu137Asp
ENST00000466794.5:n.393A>T
ENST00000486847.2:c.308A>T	ENSP00000470174.1:p.Lys103Met
ENST00000596512.5:n.349A>T
ENST00000597961.1:c.402A>T	ENSP00000472710.1:p.Glu134Asp
ENST00000598876.1:c.438A>T	ENSP00000470533.1:p.Glu146Asp
ENST00000600281.1:n.452A>T
NM_000528.3:c.411A>T	NP_000519.2:p.Glu137Asp
NM_001173498.1:c.411A>T	NP_001166969.1:p.Glu137Asp
XM_005259913.1:c.411A>T	XP_005259970.1:p.Glu137Asp
XM_005259913.2:c.411A>T	XP_005259970.1:p.Glu137Asp
XM_024451518.1:c.-608A>T	XP_024307286.1:n.-608A>T
NM_000528.4:c.411A>T MANE Select	NP_000519.2:p.Glu137Asp
NM_001173498.2:c.411A>T	NP_001166969.1:p.Glu137Asp